Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016
Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin haemoglobin[T2] H (HbH) disease, if they marry a...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mazandaran University of Medical Sciences and Health Services
2017-02-01
|
| Series: | Research in Molecular Medicine |
| Subjects: | |
| Online Access: | http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-1&slc_lang=en&sid=1 |
| _version_ | 1819092891184660480 |
|---|---|
| author | Hossein Jalali Mehrnoush Kosaryan Mohammad Reza Mahdavi Mehrad Mahdavi |
| author_facet | Hossein Jalali Mehrnoush Kosaryan Mohammad Reza Mahdavi Mehrad Mahdavi |
| author_sort | Hossein Jalali |
| collection | DOAJ |
| description | Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin haemoglobin[T2] H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hematological indices and β-globin gene mutations, in heterozygote states, leads to intermediate form of thalassemia. Using precise molecular analysis, the mutations that do not change the hematological parameters can be identified. The diagnosis of these mutations is important in screening programs. Multiplex Gap-PCR and reverse hybridization assay analysis were applied for the detection of mutations on α and β-globin genes in a patient with abnormal hematological[T3] indices from Sari at 2016. A rare co-inheritance of --MED double gene deletion and αααAnti3.7 triplication was identified. The presented case can be at risk of having a child with HbH disease and thalassemia intermedia. So, the presented case shows the [T4] importance of precise molecular analysis in premarital screening in order to prevent having a child with thalassemia. |
| first_indexed | 2024-12-21T23:02:49Z |
| format | Article |
| id | doaj.art-749f85398b10490a9e9f6534805f4dd0 |
| institution | Directory Open Access Journal |
| issn | 2322-1348 2322-133X |
| language | English |
| last_indexed | 2024-12-21T23:02:49Z |
| publishDate | 2017-02-01 |
| publisher | Mazandaran University of Medical Sciences and Health Services |
| record_format | Article |
| series | Research in Molecular Medicine |
| spelling | doaj.art-749f85398b10490a9e9f6534805f4dd02022-12-21T18:47:15ZengMazandaran University of Medical Sciences and Health ServicesResearch in Molecular Medicine2322-13482322-133X2017-02-01514447Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016Hossein Jalali0Mehrnoush Kosaryan1Mohammad Reza Mahdavi2Mehrad Mahdavi3 Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran Sina Mehr Research Center, Sari, Iran Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin haemoglobin[T2] H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hematological indices and β-globin gene mutations, in heterozygote states, leads to intermediate form of thalassemia. Using precise molecular analysis, the mutations that do not change the hematological parameters can be identified. The diagnosis of these mutations is important in screening programs. Multiplex Gap-PCR and reverse hybridization assay analysis were applied for the detection of mutations on α and β-globin genes in a patient with abnormal hematological[T3] indices from Sari at 2016. A rare co-inheritance of --MED double gene deletion and αααAnti3.7 triplication was identified. The presented case can be at risk of having a child with HbH disease and thalassemia intermedia. So, the presented case shows the [T4] importance of precise molecular analysis in premarital screening in order to prevent having a child with thalassemia.http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-1&slc_lang=en&sid=1Alpha Thalassemia αααanti3.7 triplication --MED double gene deletion |
| spellingShingle | Hossein Jalali Mehrnoush Kosaryan Mohammad Reza Mahdavi Mehrad Mahdavi Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 Research in Molecular Medicine Alpha Thalassemia αααanti3.7 triplication --MED double gene deletion |
| title | Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 |
| title_full | Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 |
| title_fullStr | Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 |
| title_full_unstemmed | Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 |
| title_short | Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016 |
| title_sort | co inheritance of med double gene deletion and αααanti3 7 triplication on α globin gene in mazandaran at 2016 |
| topic | Alpha Thalassemia αααanti3.7 triplication --MED double gene deletion |
| url | http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-1&slc_lang=en&sid=1 |
| work_keys_str_mv | AT hosseinjalali coinheritanceofmeddoublegenedeletionandaaaanti37triplicationonaglobingeneinmazandaranat2016 AT mehrnoushkosaryan coinheritanceofmeddoublegenedeletionandaaaanti37triplicationonaglobingeneinmazandaranat2016 AT mohammadrezamahdavi coinheritanceofmeddoublegenedeletionandaaaanti37triplicationonaglobingeneinmazandaranat2016 AT mehradmahdavi coinheritanceofmeddoublegenedeletionandaaaanti37triplicationonaglobingeneinmazandaranat2016 |